Leading the Fight to treat and cure Tay-Sachs, Canavan and related diseases

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Canavan

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Last Updated: Friday, 13 March 2015 13:32

Canavan is a progressive neurological genetic disorder caused by the absence of a vital enzyme known as aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly. It is one of over 50 genetically inherited disorders known as Leukodystrophies. A cure for Canavan does not yet exist but there are many strategies for managing life with Canavan disease.

Who is at risk?

Anyone can be a carrier or Canavan. When both parents are carriers each child has a 25% of having the disease. The carrier rate for the general population is 1/300. Ashkenazi Jews are at high risk with a carrier rate of 1/40.

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Canavan Review Article

Canavan disease was first described in 1931, and this review traces the progress made in the past 8 decades to understand the disease by enumerating current hypotheses and ongoing palliative measures to alleviate patient symptoms in the context of the latest advances in the field.